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Delayed membranous cranial ossification

Disease definition

Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.

ORPHA:3034

  • Synonym(s):
    • Gonzales-del Angel syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q75.8
  • OMIM: 155980
  • UMLS: C1835030
  • MeSH: -
  • GARD: 1727
  • MedDRA: -

Additional information

Further information on this disease

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